Defining the role of pre-operative hormonal therapy in hypospadias.

In hypospadias surgery, pre-operative hormonal therapy (PHT) is primarily used to increase penile dimensions and the vascularity of tissues available for reconstruction, but its use is non-uniform in clinical practice, with no consensus on application or utility. This review aims to summarise: (i) the penile tissue response to hormone therapy, (ii) its impact on hypospadias surgery outcomes, and (iii) the endocrinological considerations and sequelae. PHT is more often indicated for complex cases such as proximal hypospadias, hypospadias with microphallus and hypospadias reoperations.

Video-telehealth to support clinical assessment and management of acutely unwell older people in Residential Aged Care: a pre-post intervention study.

Background: Older people living in Residential Aged Care (RAC) are at high risk of clinical deterioration. Telehealth has the potential to provide timely, patient-centred care where transfer to hospital can be a burden and avoided. The extent to which video telehealth is superior to other forms of telecommunication and its impact on management of acutely unwell residents in aged care facilities has not been explored previously.

Supporting residential aged care through a Community of Practice.

Transfers to emergency departments and hospitalizations are common for older people living in residential aged care who experience acute deterioration. This paper shares reflections from 10 years of work across a region in New South Wales, Australia, to develop a new model of care in 141 residential aged care homes. The model successfully reduced emergency department transfers and admissions to hospital.

Reducing Hospital Transfers from Aged Care Facilities: A Large-Scale Stepped Wedge Evaluation.

Background/objectives: Older people living in residential aged care facilities (RACFs) experience acute deterioration requiring assessment and decision making. We evaluated the impact of a large-scale regional Aged Care Emergency (ACE) program in reducing hospital admissions and emergency department (ED) transfers.

Design: A stepped wedge nonrandomized cluster trial with 11 steps, implemented from May 2013 to August 2016.

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is crucial for testis development, yet the regulatory elements underlying this have not been identified in humans.

An assistant workforce to improve screening rates and quality of care for older patients in the emergency department: findings of a pre- post, mixed methods study.

Background: Older people who present to the Emergency Department (ED) experience high rates of prevalent and incident delirium. This study aimed to determine whether an assistant workforce in the ED could effectively conduct screening to inform assessment and care planning for older people as well as enhance supportive care activities for prevention of delirium.

Methods: Using a pre-post design, data was collected before and after the introduction of Older Person Technical Assistants (OPTAs) in the ED.

Cost analysis of an integrated aged care program for residential aged care facilities.

Objective To compare annual costs of an intervention for acutely unwell older residents in residential age care facilities (RACFs) with usual care. The intervention, the Aged Care Emergency (ACE) program, includes telephone clinical support aimed to reduce avoidable emergency department (ED) presentations by RACF residents. Methods This costing of the ACE intervention examines the perspective of service providers: RACFs, Hunter Medicare Local, the Ambulance Service of New South Wales, and EDs in the Hunter New England Local Health District.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously.

Emergency department transfers and hospital admissions from residential aged care facilities: a controlled pre-post design study.

Background: Older people living in Residential Aged Care Facilities (RACF) are a vulnerable, frail and complex population. They are more likely than people who reside in the community to become acutely unwell, present to the Emergency Department (ED) and require admission to hospital. For many, hospitalisation carries with it risks.

Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone.

Congenital adrenal hyperplasia (CAH) refers to a group of recessively inherited disorders of cortisol production, which in the classical form results in virilisation of female fetuses. Since the 1980s, antenatal treatment with dexamethasone has been recommended in high-risk pregnancies to minimise the risk of virilising the female genitalia of affected fetuses. To be effective, this treatment requires implementation in early pregnancy, prior to the commencement of autonomous fetal adrenal androgen synthesis.

Caring for acutely unwell older residents in residential aged-care facilities: Perspectives of staff and general practitioners.

Aim: To explore the challenges and facilitators of managing acutely unwell residents in their residential aged-care facilities (RACF) and transferring RACF residents to the emergency department of a tertiary referral hospital in Australia.

Methods: This exploratory study used a qualitative descriptive approach incorporating structured focus group interviews with nursing staff from RACFs and General Practitioners (GPs) within the local area. Four focus groups were held with staff from RACFs and one with GPs who visited one or more of the facilities during 2010.

Hormone replacement in disorders of sex development: Current thinking.

Congenital disruptions of sex hormone production lead to wide-ranging developmental and physiological effects in individuals who have atypical chromosomal, gonadal or anatomic sex. Aberrant developmental sex hormone exposure causes disorders of genital anatomy, attainment of secondary sexual characteristics and has long-term effects on metabolism, fertility and psychological functioning. Principles in the management of disorders of sex development (DSD) aim to improve physiological health and long-term outcome, as well as development of male or female sexual anatomy.

A multi-organisation aged care emergency service for acute care management of older residents in aged care facilities.

This case study describes a multi-organisation aged care emergency (ACE) service. The service was designed to enable point-of-care assessment and management for older people in residential aged care facilities (RACFs). Design of the ACE service involved consultation and engagement of multiple key stakeholders.

Nurse-led ED support for residential aged care facility staff: an evaluation study.

Objectives: To evaluate the impact of a nurse-led telephone support service to Residential Aged Care Facilities (RACFs) on a range of measures relating to the transfer of acutely unwell residents to the Emergency Department (ED) of a large tertiary referral hospital in New South Wales, Australia over a 9 month period.

Methods: A pre- and post-intervention design determined the impact of the telephone service, associated clinical guidelines and education. Data from 4 intervention RACFs using the nurse-led telephone service were compared with 8 control RACFs.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Background: NKX2-1 encodes a transcription factor with large impact on the development of brain, lung and thyroid. Germline mutations of NKX2-1 can lead to dysfunction and malformations of these organs. Starting from the largest coherent collection of patients with a suspected phenotype to date, we systematically evaluated frequency, quality and spectrum of phenotypic consequences of NKX2-1 mutations.

Fertility in Turner syndrome.

There is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction. For women with TS, specific risks of pregnancy include higher than usual rates of spontaneous abortion, foetal anomaly, maternal morbidity and mortality.